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Electrophoresis|August 11, 2023
Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site levelDomenica Megalizzi, Giulia Trastulli, Valerio Caputo, et al.
Genes|April 27, 2024
Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder ManagementStefania Zampatti, Cristina Peconi, Domenica Megalizzi, et al.
Genes|September 28, 2024
<i>RHO</i> Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic LandscapeGiulia Trastulli, Domenica Megalizzi, Giulia Calvino, et al.
Diagnostics (Basel, Switzerland)|January 25, 2025
Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample MonitoringGiulia Trastulli, Giulia Calvino, Bruno Papasergi, et al.
Genes|January 8, 2025
Federated Learning: Breaking Down Barriers in Global Genomic ResearchGiulia Calvino, Cristina Peconi, Claudia Strafella, et al.
Genes|January 25, 2025
AI-Powered Neurogenetics: Supporting Patient's Evaluation with ChatbotStefania Zampatti, Juliette Farro, Cristina Peconi, et al.
International Journal of Molecular Sciences|October 26, 2024
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare DisordersDomenica Megalizzi, Giulia Trastulli, Luca Colantoni, et al.
Frontiers in Genetics|September 7, 2023
Whole exome sequencing highlights rare variants in <i>CTCF</i>, <i>DNMT1</i>, <i>DNMT3A</i>, <i>EZH2</i> and <i>SUV39H1</i> as associated with FSHDClaudia Strafella, Valerio Caputo, Sara Bortolani, et al.
Journal of Personalized Medicine|December 29, 2022
Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among PopulationsCarlo Fabrizio, Andrea Termine, Valerio Caputo, et al.
Clinical Genetics|December 2, 2023
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian familiesClaudia Strafella, Luca Colantoni, Domenica Megalizzi, et al.
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